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- W60443163 abstract "This is a lethal X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and acquired cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C(p.Ser37Pro) variant in NAA10, a gene encoding thecatalytic subunit of the major human N-terminal acetyltransferase (NatA). This same mutation was identified in a second unrelated family, with three affected boys in two generations. This X-linked Malformation and Infantile Lethality Syndrome has provisionally been named OgdenSyndrome, in honor of the hometown where the first family resides." @default.
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- W60443163 date "2016-06-01" @default.
- W60443163 modified "2023-09-26" @default.
- W60443163 title "X-linked Malformation and Infantile Lethality Syndrome, Provisionally Named Ogden Syndrome" @default.
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- W60443163 doi "https://doi.org/10.1093/med/9780199934522.003.0169" @default.
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